巨大リクガメのDNAから絶滅系統を特定(Reading the giant tortoise DNA that time forgot)

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2026-08-26 イェール大学

イェール大学主導の研究チームは、劣化が著しく従来のゲノム解析では利用困難とされていた博物館所蔵のガラパゴスゾウガメの古代DNAから、絶滅した2つの系統を特定した。研究では、乾燥骨から得られたDNA断片を、現生・歴史的なゾウガメの高品質ゲノムから構築した系統樹に重ね合わせ、複数の計算解析手法を組み合わせて遺伝的関係を推定した。解析対象にはゲノムの1%未満しか読めない試料も含まれていたが、絶滅したサン・クリストバル島系統とサンタフェ島系統を識別することに成功した。さらに、人為的に島間移送されたゾウガメが交雑した結果、絶滅系統の遺伝情報が現生の雑種個体に残っている可能性も示された。新たな計算手法は、絶滅生物の進化史解明だけでなく、ガラパゴスゾウガメの保全や野生生物の遺伝的多様性回復にも活用できると期待される。

巨大リクガメのDNAから絶滅系統を特定(Reading the giant tortoise DNA that time forgot)
The Pinzón saddleback tortoise, a small giant tortoise species native to Pinzón Island in the Galapagos characterized by a saddle-like curve in its shell. Credit: Evelyn Jensen

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ガラパゴスゾウガメの進化史を再構築するための、超低カバレッジ全ゲノム配列の統合 Integration of ultra-low coverage whole-genome sequences for reconstructing the evolutionary history of Galapagos giant tortoises

Alexander Ochoa;Stephen J. Gaughran;Rachel Gray;Nicole A. Fusco;Johanna N. J. Weston;Cyler Conrad;Nikos Poulakakis;Joshua M. Miller;Adalgisa Caccone;Evelyn L. Jensen
Proceedings of the Royal Society B  Published:22 Jul 2026
DOI:https://doi.org/10.1098/rspb.2026.0103

Abstract

Genomic data from contemporary and historical samples often need to be coupled for evolutionary reconstructions of multitaxon complexes. However, the genetic data recovered from historical samples may result only in ultra-low coverage whole-genome sequences (ulcWGS; <0.15× depth), leading to inaccurate evolutionary inferences given a preponderance of missing data. Using the Galapagos giant tortoise radiation as a study system (Chelonoidis spp., composed of 13 extant and four extinct lineages), we assembled a novel methodological pipeline that removes potential noise introduced by the missing data and enhances the evolutionary signal from ulcWGS samples. We leveraged existing tools for phylogenomic placement (EPA-ng), population genomic structure (smartsnp) and admixture (Admixfrog, NGSadmix) to demonstrate that the evolutionary history of samples can be uncovered with sequencing depths as low as 0.008–0.139×. Importantly, these approaches do not use genotype imputation of the ulcWGS samples, which would require extensive reference datasets. Our application to two cases of extinct lineages of Galapagos giant tortoises, with and without references from the same lineage, demonstrates the general value of the approach. We confirm where the extinct lineages from San Cristóbal and Santa Fe islands fit into the Galapagos giant tortoise radiation, and that these lineages were evolutionarily distinct entities.

細胞遺伝子工学
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